Canonical Allele Identifier: CA498009619

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896240C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992923C>G , CM000679.2:g.12992923C>G	GRCh38
NC_000017.10:g.12896240C>G , CM000679.1:g.12896240C>G	GRCh37
NC_000017.9:g.12836965C>G	NCBI36
NG_015808.1:g.30142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2376G>C MANE Select	ENSP00000337445.4:p.Ala792=
ENST00000338034.8:c.2376G>C	ENSP00000337445.4:p.Ala792=
ENST00000395962.6:c.2319G>C	ENSP00000379291.1:p.Ala773=
ENST00000426905.7:c.2256G>C	ENSP00000405223.3:p.Ala752=
ENST00000465825.5:n.2263G>C
ENST00000480891.5:n.2205G>C
ENST00000484122.5:n.3206G>C
ENST00000487229.6:n.1922G>C
ENST00000584650.5:c.1775G>C
NM_001165962.1:c.2256G>C	NP_001159434.1:p.Ala752=
NM_018127.6:c.2376G>C	NP_060597.4:p.Ala792=
NM_173717.1:c.2373G>C	NP_776065.1:p.Ala791=
XM_024450850.1:c.2535G>C	XP_024306618.1:p.Ala845=
XM_024450851.1:c.2457G>C	XP_024306619.1:p.Ala819=
XM_024450852.1:c.2454G>C	XP_024306620.1:p.Ala818=
XM_024450853.1:c.2451G>C	XP_024306621.1:p.Ala817=
XM_024450854.1:c.2415G>C	XP_024306622.1:p.Ala805=
XM_024450855.1:c.2334G>C	XP_024306623.1:p.Ala778=
XM_024450856.1:c.2253G>C	XP_024306624.1:p.Ala751=
XM_024450857.1:c.2253G>C	XP_024306625.1:p.Ala751=
XM_024450858.1:c.2172G>C	XP_024306626.1:p.Ala724=
XM_024450859.1:c.2169G>C	XP_024306627.1:p.Ala723=
XM_024450860.1:c.2094G>C	XP_024306628.1:p.Ala698=
XM_024450861.1:c.2094G>C	XP_024306629.1:p.Ala698=
XM_024450862.1:c.2091G>C	XP_024306630.1:p.Ala697=
NM_018127.7:c.2376G>C MANE Select	NP_060597.4:p.Ala792=
NM_001165962.2:c.2256G>C	NP_001159434.1:p.Ala752=
NM_173717.2:c.2373G>C	NP_776065.1:p.Ala791=